HIGHLIGHTS
- who: Robin-Tobias Jauss et al. from the Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Strau00dfe, Leipzig, Germany have published the Article: Routine Diagnostics Confirm Novel Neurodevelopmental Disorders, in the Journal: Genes 2022, 2305 of /2022/
- what: With a retrospective analysis of the cohort of nearly 10,000 analyses, the authors aimed to confirm present but weak GDAs, expand the evidence and causative variants on rare Mendelian genes, and confirm hitherto provisional OMIM associations. The authors report a 6 years-old boy with global developmental delay, seizures since the age of . . .
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